• PMID: 24928356
• Gene Name: NAT2
• Condition: Idiopathic male infertility
• Association: This pilot study found, as far as is known for the first time, that the polymorphism 590G>A of NAT2 is a novel genetic marker for susceptibility to idiopathic male infertility, but the risk is potentiated by exposure to various environmental oxidants.
• Mutation: NAT2 gene (481C>T, rs1799929; 590G>A, rs1799930)
• Population size: 430
• Population details: 430 (203 infertile patients, 227 fertile men)
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Idiopathic male infertility

Synergism between the N-acetyltransferase 2 gene and oxidant exposure increases the risk of idiopathic male infertility

Yarosh SL, Kokhtenko EV, Churnosov MI, Ataman AV, Solodilova MA, Polonikov AV.

N-acetyltransferase (NAT2) is a phase-II xenobiotic-metabolizing enzyme participating in the detoxification of toxic arylamines, aromatic amines and hydrazines. The present study was designed to investigate whether two common single-nucleotide polymorphisms (SNP) of the NAT2 gene (481C>T, rs1799929; 590G>A, rs1799930) are associated with susceptibility to idiopathic male infertility and to assess if the risk is modified by oxidant and antioxidant exposures. A total 430 DNA samples (203 infertile patients and 227 fertile men) were genotyped for the polymorphisms by PCR and restriction fragment length polymorphism. No association was found between the NAT2 polymorphisms and idiopathic male infertility. However, gene-environment interaction analysis revealed that a low-acetylation genotype, 590GA, was significantly associated with increased disease risk in men who had environmental risk factors such as cigarette smoking (OR 1.71, 95% CI 1.02-2.87, P = 0.042), alcohol abuse (OR 2.14, 95% CI 1.08-4.27, P = 0.029) and low fruit/vegetable intake (OR 1.68, 95% CI 1.01-2.79, P = 0.04). This pilot study found, as far as is known for the first time, that the polymorphism 590G>A of NAT2 is a novel genetic marker for susceptibility to idiopathic male infertility, but the risk is potentiated by exposure to various environmental oxidants. CI - Copyright © 2014 Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved. FAU - Yarosh, Sergey L AU - Yarosh SL AD - Department of Biology, Medical Genetics and Ecology, Kursk State Medical University, Kursk, Russian Federation; Family Planning and Reproductive Health Clinic, Regional Perinatal Center, Kursk, Russian Federation. FAU - Kokhtenko, Elena V AU - Kokhtenko EV AD - Department of Zoology and Theory of Evolution, Kursk State University, Kursk, Russian Federation. FAU - Churnosov, Mikhail I AU - Churnosov MI AD - Department of Medical Biological Disciplines, Belgorod State National Research University, Belgorod, Russian Federation. FAU - Ataman, Alexander V AU - Ataman AV AD - Department of Pathophysiology, Sumy State University, Sumy, Ukraine. FAU - Solodilova, Maria A AU - Solodilova MA AD - Department of Biology, Medical Genetics and Ecology, Kursk State Medical University, Kursk, Russian Federation.